ClinVar Miner

Variants in gene GJB2

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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
127 95 157 57 41 2 345

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Deafness, autosomal recessive 1A 71 66 92 19 20 0 220
not provided 67 21 42 22 10 0 140
Deafness, autosomal dominant 3a 25 19 29 20 21 1 106
not specified 14 5 44 29 15 0 97
Hystrix-like ichthyosis with deafness 2 0 28 15 28 0 72
Rare genetic deafness 42 20 0 0 0 0 62
Nonsyndromic hearing loss and deafness 26 9 17 4 5 0 60
Hearing loss 30 2 4 1 0 0 37
Hearing impairment 25 3 0 0 0 0 25
none provided 14 1 1 3 4 0 23
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 15 2 3 0 0 0 20
Deafness, autosomal recessive 1A; Deafness, autosomal recessive 1b 14 2 0 0 0 0 16
Keratitis-ichthyosis-deafness syndrome, autosomal dominant 5 1 0 0 0 0 6
Nonsyndromic Deafness 4 0 2 0 0 0 6
Inborn genetic diseases 4 1 0 0 0 0 5
Mutilating keratoderma 2 0 1 1 1 0 5
Palmoplantar keratoderma-deafness syndrome 5 0 0 0 0 0 5
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 4 0 0 0 0 0 4
Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 1 0 1 0 1 0 3
Keratitis ichthyosis and deafness syndrome 0 0 1 1 1 0 3
Nonsyndromic Hearing Loss, Dominant 0 0 1 1 1 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 1 0 1 1 3
Sensorineural hearing loss 1 1 1 0 0 0 3
Deafness 1 0 0 0 0 1 2
GJB2-Related Disorders 1 1 0 0 0 0 2
Hereditary palmoplantar keratoderma; Nonsyndromic hearing loss and deafness 2 0 0 0 0 0 2
Knuckle pads, deafness AND leukonychia syndrome 2 0 0 0 0 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 2
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 0 0 0 0 1
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
Congenital omphalocele; Hearing impairment; Horseshoe kidney; Short palpebral fissure 1 0 0 0 0 0 1
Deafness, autosomal recessive 12 1 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB3 1 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 1 0 0 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 1 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
IFAP syndrome with or without BRESHECK syndrome 1 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 1 0 0 0 0 1
Severe sensorineural hearing impairment 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 20 54 45 1 0 0 120
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 42 20 22 20 13 0 117
Integrated Genetics/Laboratory Corporation of America 41 5 24 10 9 0 89
Illumina Clinical Services Laboratory,Illumina 9 4 37 25 29 0 76
Invitae 48 5 0 16 3 0 72
Athena Diagnostics Inc 35 3 22 4 7 0 71
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 32 6 5 8 9 0 60
Natera, Inc. 33 2 13 3 7 0 58
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 29 3 13 3 10 0 58
GeneDx 32 9 4 4 5 0 54
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 24 4 13 2 5 0 48
INGEBI, INGEBI / CONICET 25 3 9 4 5 0 46
OMIM 42 0 0 0 0 0 42
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 30 2 4 1 0 0 37
Genetic Services Laboratory,University of Chicago 29 0 2 0 5 0 36
GeneReviews 28 0 0 0 1 0 28
ClinGen Hearing Loss Variant Curation Expert Panel 7 6 9 0 0 0 22
Fulgent Genetics,Fulgent Genetics 15 2 3 0 0 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 11 1 5 1 0 0 18
Baylor Genetics 14 2 0 0 0 0 16
Myriad Women's Health, Inc. 15 1 0 0 0 0 16
Knight Diagnostic Laboratories, Oregon Health and Sciences University 14 2 0 0 0 0 14
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 9 3 0 2 0 0 13
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 9 1 1 0 0 0 11
PreventionGenetics,PreventionGenetics 0 1 0 2 7 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 1 1 0 0 0 9
Mendelics 3 0 1 0 4 0 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 6 1 0 0 0 0 7
Ambry Genetics 4 1 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 0 0 0 0 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 3 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 0 0 1 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 2 0 1 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 4
Center for Statistical Genetics, Columbia University 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 1 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon 0 0 1 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 0 0 1
Uitto Lab,Thomas Jefferson University 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 1
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1

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